NSG412 Peds Critical Thinking
Genetics: The study of individual genes and how traits or conditions are passed
down through heredity. It focuses on specific gene mutations or inherited disorders
(e.g., cystic fibrosis).
Genetics/Genomics: Genomics: The study of all of a person’s genes (the genome), including how they
What is the difference between genetics, interact with each other and with environmental and lifestyle factors. It provides a
genomics, and epigenetics? broader view of how genes influence health and disease.
Epigenetics: The study of how gene expression is turned on or off without
altering the DNA sequence. Environmental factors, stress, or nutrition can
influence epigenetic changes.
Understanding genetics and genomics allows RNs to:
-Assess for genetic risk factors and collect family histories (e.g., 3-generation
pedigree).
-Interpret how genetic and environmental factors influence disease.
Genetics/Genomics:
-Educate patients and families about inherited conditions, testing options, and
Why are understanding genetics and
personalized treatments.
genomics important to the RN's practice?
-Advocate for early interventions and referrals to genetic counseling.
How would it assist in educating patients?
-Support patients emotionally and ethically through decision-making.
This knowledge helps nurses explain complex information in understandable terms,
empowering families to make informed choices about care and prevention.
, Cause: Trisomy 21—an extra copy of chromosome 21 due to nondisjunction.
Signs & Symptoms:
-Small head, flattened midface
-Almond-shaped eyes with epicanthal folds
-Protruding tongue, small mouth
-Hypotonia, short stature
-Simian crease on palm
-Intellectual disability
Genetics/Genomics: Anticipatory Education:
Understand Down Syndrome. Cause, s/sx, -Developmental delays are expected—early intervention is key.
anticipatory education. What -Encourage routine health screenings and therapies (PT, OT, speech).
procedures should all Down newborns -Promote inclusive education and socialization.
have before discharge? What
support/education would the RN provide Before Discharge, All Down Syndrome Newborns Should Have:
to families? -Echocardiogram: to detect congenital heart defects
-Hearing screening
-Thyroid function tests
-Feeding evaluation
RN Support/Education:
-Provide emotional support and connect families to Down Syndrome support
groups.
-Educate on realistic developmental expectations.
-Reinforce the importance of follow-up care and early intervention services.
Trisomy 18 (Edwards Syndrome)
-Cause: Extra chromosome 18
-Features: Microcephaly, clenched fists, rocker-bottom feet, cardiac defects
-Prognosis: Poor; median survival is less than 1 year
-RN Role: Provide palliative care, support family decisions, and offer grief resources
Genetics/Genomics:
Understand Trisomy 18 and 13. Trisomy 13 (Patau Syndrome)
-Cause: Extra chromosome 13
-Features: Severe CNS anomalies, cleft lip/palate, polydactyly, cardiac defects
-Prognosis: Most infants die within days to weeks
-RN Role: Comfort care, support with ethical decisions, and coordinate hospice if
needed
Genetics/Genomics:
Be familiar with the five genetic syndromes
in the PowerPoint. Genetic cz, s/sx. How
could the RN support these families?
-Nutrition: Strict control of food access; child will always feel hungry due to
hypothalamic dysfunction.
-Behavioral Management: Support for stubbornness, tantrums, and obsessive
Genetics/Genomics:
behaviors.
What would be the primary education for
-Safety: Lock food storage areas; monitor for choking due to poor muscle tone.
the Prader-Willi family?
-Developmental Support: Early intervention for hypotonia and delayed milestones.
-Family Support: Connect to Prader-Willi support organizations and provide
anticipatory guidance for adolescence and adulthood.
-A thorough history helps identify exposure risks, immunization gaps, and
Communicable Diseases: underlying vulnerabilities (e.g., immunocompromised status).
Why It Matters -Early recognition of communicable diseases prevents delayed diagnosis,
inappropriate treatment, and outbreaks.
Genetics: The study of individual genes and how traits or conditions are passed
down through heredity. It focuses on specific gene mutations or inherited disorders
(e.g., cystic fibrosis).
Genetics/Genomics: Genomics: The study of all of a person’s genes (the genome), including how they
What is the difference between genetics, interact with each other and with environmental and lifestyle factors. It provides a
genomics, and epigenetics? broader view of how genes influence health and disease.
Epigenetics: The study of how gene expression is turned on or off without
altering the DNA sequence. Environmental factors, stress, or nutrition can
influence epigenetic changes.
Understanding genetics and genomics allows RNs to:
-Assess for genetic risk factors and collect family histories (e.g., 3-generation
pedigree).
-Interpret how genetic and environmental factors influence disease.
Genetics/Genomics:
-Educate patients and families about inherited conditions, testing options, and
Why are understanding genetics and
personalized treatments.
genomics important to the RN's practice?
-Advocate for early interventions and referrals to genetic counseling.
How would it assist in educating patients?
-Support patients emotionally and ethically through decision-making.
This knowledge helps nurses explain complex information in understandable terms,
empowering families to make informed choices about care and prevention.
, Cause: Trisomy 21—an extra copy of chromosome 21 due to nondisjunction.
Signs & Symptoms:
-Small head, flattened midface
-Almond-shaped eyes with epicanthal folds
-Protruding tongue, small mouth
-Hypotonia, short stature
-Simian crease on palm
-Intellectual disability
Genetics/Genomics: Anticipatory Education:
Understand Down Syndrome. Cause, s/sx, -Developmental delays are expected—early intervention is key.
anticipatory education. What -Encourage routine health screenings and therapies (PT, OT, speech).
procedures should all Down newborns -Promote inclusive education and socialization.
have before discharge? What
support/education would the RN provide Before Discharge, All Down Syndrome Newborns Should Have:
to families? -Echocardiogram: to detect congenital heart defects
-Hearing screening
-Thyroid function tests
-Feeding evaluation
RN Support/Education:
-Provide emotional support and connect families to Down Syndrome support
groups.
-Educate on realistic developmental expectations.
-Reinforce the importance of follow-up care and early intervention services.
Trisomy 18 (Edwards Syndrome)
-Cause: Extra chromosome 18
-Features: Microcephaly, clenched fists, rocker-bottom feet, cardiac defects
-Prognosis: Poor; median survival is less than 1 year
-RN Role: Provide palliative care, support family decisions, and offer grief resources
Genetics/Genomics:
Understand Trisomy 18 and 13. Trisomy 13 (Patau Syndrome)
-Cause: Extra chromosome 13
-Features: Severe CNS anomalies, cleft lip/palate, polydactyly, cardiac defects
-Prognosis: Most infants die within days to weeks
-RN Role: Comfort care, support with ethical decisions, and coordinate hospice if
needed
Genetics/Genomics:
Be familiar with the five genetic syndromes
in the PowerPoint. Genetic cz, s/sx. How
could the RN support these families?
-Nutrition: Strict control of food access; child will always feel hungry due to
hypothalamic dysfunction.
-Behavioral Management: Support for stubbornness, tantrums, and obsessive
Genetics/Genomics:
behaviors.
What would be the primary education for
-Safety: Lock food storage areas; monitor for choking due to poor muscle tone.
the Prader-Willi family?
-Developmental Support: Early intervention for hypotonia and delayed milestones.
-Family Support: Connect to Prader-Willi support organizations and provide
anticipatory guidance for adolescence and adulthood.
-A thorough history helps identify exposure risks, immunization gaps, and
Communicable Diseases: underlying vulnerabilities (e.g., immunocompromised status).
Why It Matters -Early recognition of communicable diseases prevents delayed diagnosis,
inappropriate treatment, and outbreaks.
